Loaʻa i kāu keiki liʻiliʻi kēia mau loli ma ko lākou helehelena? E kamaʻilio kākou e pili ana i ka Van der Woude Syndrome!

He mau lua liʻiliʻi anei ko kāu pēpē ma kona lehelehe lalo? A i ʻole he lehelehe māwae a palale paha kona? I kekahi manawa hiki iā ʻoe ke ʻike i kahi niho nalowale? He mea maʻamau loa ia no ʻoe, ma ke ʻano he makuahine a makua paha, ke makaʻu nui a hopohopo ke ʻike ʻoe i kēia mau mea. Akā, mai hopohopo. I kēia lā e kamaʻilio kikoʻī mākou e pili ana i ke kumu o kēia mau mea a me nā mea hiki ke hana ʻia no lākou. Ke ʻike ʻoe i kēia, e ʻike ʻoe i kahi manaʻo nui o ka hōʻoluʻolu.

He aha ka Van der Woude Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka Van der Woude Syndrome kahi maʻi hoʻoilina kakaikahi e hoʻopilikia i ke ʻano o ka ulu ʻana o ka waha o kahi pēpē i ko lākou wā i loko o ka ʻōpū. Loaʻa i nā keiki me kēia maʻi nā lua liʻiliʻi (nā lua lehelehe) ma ko lākou mau lehelehe haʻahaʻa. I kekahi manawa e piʻi iki aʻe kēia mau lua. Loaʻa paha iā lākou kahi lehelehe māwae, kahi palate māwae, a i ʻole nā ​​​​mea ʻelua. Loaʻa paha i kekahi mau keiki kekahi mau niho i ulu ʻole.

I kekahi manawa, kapa nā kauka i kēia maʻi ʻo "lip pit syndrome." Ua wehewehe mua ʻia e ke kauka Farani ʻo J. Demarquay ma kahi o 1845. Eia naʻe, ua hāʻawi ʻia ka inoa ʻo "Vander Woude" no ka hoʻohanohano ʻana iā Kauka Anne Van der Woude, nāna i aʻo nui iā ia i ka hoʻomaka ʻana o nā makahiki 1950.

He aha ka Cleft Lip a me ka Cleft Palate?

E hoʻomaopopo pono kākou i kēia. ʻO ka lehelehe māwae a me ka lehelehe māwae he mau kīnā hānau ia e kū mai ana i ka wā o ka ulu ʻana o kahi pēpē i loko o ka ʻōpū. Hiki i kahi pēpē ke loaʻa i kekahi a i ʻole nā ​​​​​​mea ʻelua o kēia mau maʻi.

• Lehelehe Māwae: ʻO kēia ka wā e hui pono ʻole ai nā ʻaoʻao ʻelua o ka lehelehe luna o kāu keiki. Hiki i kēia ke hana i kahi hakahaka liʻiliʻi a i ʻole ka māwae ma ka lehelehe luna. Hiki i kēia ke hoʻopilikia i nā ʻāʻī.
• ʻAla Māwae: ʻO kēia ka wā e loaʻa ai i ke keiki kahi hakahaka a māhele paha ma luna o ka ʻili o ko lākou waha, ma ka ʻaoʻao mua o ka lehelehe, ʻo ia ka ʻāpana iwi, a ma ka ʻaoʻao hope paha o ka lehelehe, ʻo ia ka ʻāpana palupalu, a i ʻole ma nā ʻāpana ʻelua.

Pehea ka maʻamau o Van der Woude Syndrome?

He maʻi laha ʻole kēia. Inā ʻoe e nānā a puni ka honua, hoʻopilikia wale kēia maʻi i hoʻokahi i loko o 35,000 a 100,000 mau kānaka. No laila hiki iā ʻoe ke ʻike i ka laha ʻole o kēia.

He aha ke kumu o kēia?

I kēia manawa, e nānā kākou i ke kumu o ka Vander Wood Syndrome. ʻO ke kumu nui o kēia he loli genetic.

Hoʻokele ʻia nā mea āpau i loko o ko kākou kino e kahi moʻo o nā kuhikuhi liʻiliʻi. ʻO kēia ka mea a kākou e kapa nei he 'genes'. Ua like ia me kahi meaʻai. No laila, pili kahi gene kūikawā i kapa ʻia ʻo 'IRF6' (Interferon Regulatory Factor 6) i ka Vander Wood syndrome.Hana kēia gene `IRF6` e like me kahi `ʻenekinia` nāna e kūkulu i nā mea e like me ke poʻo o ka pēpē, ka maka, ka ʻili, a me nā ʻōpū. ʻO ia ka mea nāna e hana i nā mea `protein` e pono ai no kēia mau mea e ulu pono ai.

I kēia manawa, e noʻonoʻo, he aha ka mea e hana ʻia inā he loli iki, a i ʻole hiki iā mākou ke ʻōlelo he 'mutation', i loko o nā kuhikuhi a kēia 'ʻenekinia' e hana pū ai, i loko o ka gene `IRF6`? ʻAʻole i hana ʻia kēlā mea hoʻohui `protein' i ka nui e pono ai. ʻO ia ka manawa e ulu pono ʻole ai kekahi mau ʻāpana o ka maka o ka pēpē, ʻoiai nā lehelehe a me ka palale. Maopopo iā ʻoe?

Hoʻoilina nā keiki me kēia maʻi i ka gene `IRF6` i hoʻololi ʻia mai hoʻokahi makua wale nō, ʻo ka makuahine a i ʻole ka makuakāne. Ke hoʻomau nei nā kānaka ʻepekema i ka noiʻi ʻana i kēia, hiki paha ke ʻike ʻia nā genes hou aʻe i pili i ka wā e hiki mai ana.

ʻO wai ka mea i ʻoi aku ka nui o ka pilikia o ka hoʻomohala ʻana i kēia?

He maʻi autosomal dominant ka Vander Wood syndrome. I ka ʻōlelo maʻalahi, ʻo ia hoʻi inā loaʻa i kekahi o nā mākua ka mutation gene e hoʻoulu ai i ka maʻi, hiki i ke keiki ke hoʻoilina iā ia.

ʻO ke ʻano kēia, inā loaʻa i kekahi o nā mākua ka hoʻololi ʻana o ka gene, loaʻa i kēlā me kēia keiki a lākou he 50% ka manawa e hoʻoilina ai i ke kūlana. ʻO ka maʻamau, loaʻa pū kekahi i ka makua nāna i hoʻoilina i ka gene ke kūlana. Eia nō naʻe, he mea kakaikahi loa, hiki i kahi keiki ke hoʻoilina i ka hoʻololi ʻana o ka gene a ʻaʻole hōʻike i nā hōʻailona o ka maʻi Vander Wood.

He aha nā hōʻailona o kēia maʻi?

Aia kekahi mau hōʻailona nui o ka Vander Wood Syndrome, a mākou e makaʻala ai.

• Lehelehe māwae, palale māwae, a i ʻole nā ​​mea ʻelua: ʻO kēia ka hiʻohiʻona koʻikoʻi a maopopo loa.
• Nā lua lehelehe a i ʻole nā ​​puʻu: Hiki ke ʻike ʻia nā lua liʻiliʻi a i ʻole nā ​​puʻu ma kekahi a i ʻole nā ​​ʻaoʻao ʻelua o ka lehelehe lalo. I kekahi manawa aia paha hoʻokahi a ʻoi aku paha o kēia mau mea.
• Lehelehe lalo pulu: No ka mea, ua pili kēia mau 'lua lehelehe' i nā kelepa salivary a i ʻole nā ​​kelepa mucus, hiki i ka lehelehe lalo ke ʻike mau ʻia he pulu a pulu.
• Nā niho nalowale (hypodontia) a i ʻole nā ​​pilikia me ka enamel niho (dental hypoplasia): Loaʻa paha i kekahi mau keiki kekahi mau niho paʻa a ʻoi aku paha. Loaʻa paha iā lākou kekahi mau pilikia me ka ulu ʻana o ka enamel, ka uhi pale o waho o nā niho.

He aha nā pilikia e hiki ke hana ma muli o kēia ʻano?

Hiki i kekahi mau keiki me ka Vander Wood syndrome ke loaʻa nā pilikia ʻē aʻe, akā ʻaʻole i loaʻa i nā kānaka a pau kēia mau mea.

• Nā lohi o ka ulu ʻana: Hiki i kekahi mau keiki ke lohi i ko lākou ulu ʻana.
• Ka hemahema iki o ka noʻonoʻo: Aia paha kekahi hemahema iki i nā hiki ke aʻo.
• Ka lohi o ka ʻōlelo a me ka ʻōlelo: ʻO nā pilikia me nā lehelehe a me ka lehelehe ke kumu o ka lohi o ka ʻōlelo a me ka ulu ʻana o ka ʻōlelo.

Hiki iā ʻoe ke ʻike i kēia i ka wā e noho ana ke pēpē i loko o ka ʻōpū?

ʻAe, i kekahi manawa hiki.

Hiki i kahi scan ultrasound ʻoiai ke pēpē i loko o ka ʻōpū ke ʻike i kahi lehelehe māwae a, kākaʻikahi, kahi palate māwae. Aia kekahi mau hoʻokolohua kūikawā e nānā ai no ka hoʻololi ʻana o ka gene IRF6. Ua kapa ʻia kēia mau mea he mau hoʻokolohua prenatal.

• ʻO ka laʻana ʻana o Chorionic villus (CVS): Pili kēia i ka lawe ʻana i kahi ʻāpana liʻiliʻi o ka ʻiʻo mai ka placenta a hoʻāʻo iā ia.
• ʻO ka amniocentesis genetic: Pili kēia i ka lawe ʻana i kahi hāpana o ka wai amniotic e hoʻopuni ana i ka pēpē a me ka hoʻāʻo ʻana i kāna mau genes.

Hiki i kēia mau hoʻokolohua ke hōʻoia inā loaʻa ka mutation genetic.

Pehea e hoʻoholo pono ai kēia ma hope o ka hānau ʻana o ke keiki?

Inā he lehelehe māwae, palale māwae, a i ʻole nā ​​lua lehelehe o kāu pēpē ma hope o ka hānau ʻana, e paipai paha kāu kauka i kahi hoʻāʻo gene . Hana pinepine ʻia kēia ma ka lawe ʻana i kahi hāpana koko. E hoʻoholo pono kēia hoʻāʻo inā loaʻa iā ʻoe ka mutation gene IRF6 e hoʻoulu ai i ka Vander Wood syndrome. I kekahi manawa e noi ʻia paha ʻoe a me kāu hoa e hana i kēia hoʻāʻo genetic e hoʻomaopopo i ka mōʻaukala genetic o kou ʻohana.

Pehea e mālama ai i kēia?

ʻO ke ʻoki kino ke ʻano lapaʻau nui no kēia maʻi. Mai hopohopo, ua holomua loa kēia ʻoki kino.

• Pono ke ʻoki kino e pani ai i nā hakahaka ma waena o ka lehelehe māwae a me ka lehelehe māwae, ʻo ia hoʻi, e hoʻoponopono iā lākou.
• Hana pinepine ʻia ke ʻoki lehelehe māwae i ka wā he 2 a 6 mahina ka pēpē.
• ʻO ka maʻamau, hana ʻia ke ʻoki ʻana e hoʻoponopono ai i ka palale māwae ma hope aku, ʻo ia hoʻi, i ka wā e piha ai ke pēpē ma waena o 9 a me 18 mau mahina .
• Inā loaʻa iā ʻoe kēlā mau 'lua lehelehe' a mākou i kamaʻilio ai, hana ʻia ke ʻoki kino e wehe iā lākou a kāohi i ka lawai a me ka mucus mai ke kahe ʻana i loko o nā lehelehe. Hiki ke hana ʻia kēia ʻoki kino i kekahi manawa i ka manawa like me ke ʻoki kino e hoʻoponopono ai i ka 'lehelehe māwae' a i ʻole ka 'palate māwae'.

He aha nā lāʻau lapaʻau ʻē aʻe ma laila?

Ma waho aʻe o ke ʻoki kino, aia kekahi mau lāʻau ʻē aʻe e hiki ke kōkua i ke keiki.

• Nā pilikia hānai: ʻO nā pēpē me ka lehelehe māwae a i ʻole ka palale māwae paha e loaʻa ka pilikia o ka omo ʻana a me ka ʻai ʻana a hiki i ke ʻoki ʻana. Inā hana ʻia kēia, pono paha ʻoe e ʻike i kahi meaʻai meaʻai a i ʻole ka mea lapaʻau ʻōlelo no ka ʻōlelo aʻoaʻo e pili ana i nā ʻōmole hānai kūikawā a me nā ʻano hana hānai.
• Hoʻōla ʻōlelo: Loaʻa paha i kekahi mau keiki ka pilikia o ka ʻōlelo ʻana ma hope o ke ʻoki ʻana. Hiki i ka hoʻōla ʻōlelo ke kōkua nui i ia mau hihia.
• Ka mālama ʻana i nā niho:Inā paha he mau niho nalowale kou a i ʻole nā ​​pilikia me kou enamel niho, he mea nui e hana i nā nānā niho maʻamau me kahi kauka niho loea a mālama pono i kou mau niho a me kou mau ʻāʻī. Pono paha ʻoe e loaʻa nā dentures a i ʻole ka lāʻau orthodontic e pani i nā niho nalowale.

Hiki ke pale ʻia ka maʻi Van der Woude?

He maʻi hoʻoilina kēia, no laila he paʻakikī ke pale loa aku. Eia nō naʻe, inā ʻike ʻoe he hoʻololi ʻana o kou gene a i ʻole kāu hoa e hoʻokumu ai, he manaʻo maikaʻi e ʻike i kahi kākāʻōlelo hoʻoilina ma mua o kou loaʻa ʻana o kahi keiki.

Hiki i kekahi kākā'ōlelo genetic ke wehewehe iā ʻoe i ka pilikia o ka hoʻoili ʻana i kēia hoʻololi genetic i nā hanauna e hiki mai ana, a me nā ʻano hana e hiki ke hoʻohana ʻia e hōʻemi i kēlā pilikia (no ka laʻana, nā mea e like me `PGD` - `Preimplantation Genetic Diagnosis`, i hana ʻia me nā ʻenehana e like me `IVF`).

He aha ka wā e hiki mai ana o kekahi me kēia maʻi?

He mea weliweli paha kēia, akā i ka hapanui o nā hihia, hiki ke mālama pono ʻia kēia ʻano. He kūleʻa loa ke ʻoki ʻana e hoʻoponopono i ka lehelehe māwae a me ka lehelehe māwae. Nui nā mea hiki iā ʻoe ke hana ma ka home e kōkua i kāu keiki e hoʻōla koke ma hope o ke ʻoki ʻana.

Hana maikaʻi ka hapa nui o nā keiki ma hope o ke ʻoki ʻana a ola lākou i nā ola maʻamau a piha e like me nā keiki ʻē aʻe. Inā pilikia lākou i ka ʻōlelo ʻana, hiki i ka hoʻōla ʻōlelo ke kōkua. No laila he mea nui ka loaʻa ʻana o ka manaʻolana.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa i kāu keiki kekahi o kēia mau pilikia, e ʻike koke i ke kauka:

• Paʻakikī ka hanu ʻana
• Paʻakikī i ka ʻai ʻana
• Paʻakikī i ka ʻōlelo ʻana
• Paʻakikī ke ale ʻana

Inā loaʻa iā ʻoe kēia mau mea, he mea nui loa e ʻimi koke i ke kōkua lapaʻau.

He aha kāu e nīnau ai i kāu kauka?

Ke hele ʻoe e ʻike i ke kauka, hiki iā ʻoe ke nīnau i kēia mau nīnau:

• He aha ke kumu o ka loaʻa ʻana o ka Vander Wood syndrome i kaʻu keiki?
• Pono anei kaʻu keiki i ke ʻoki kino? Inā pēlā, āhea e hana ʻia ai?
• He aha nā lāʻau ʻē aʻe i loaʻa e hiki ke kōkua i kaʻu keiki?
• He aha kaʻu e hana ai ma ka home e kōkua ai i nā pilikia ʻai a me ka ʻōlelo ʻana?
• Pono anei māua me kaʻu kāne e hana i nā hoʻāʻo genetic?
• Pono anei au e makaʻala i nā hōʻailona o nā pilikia?

E nīnau i kēia mau nīnau a e hoʻomālamalama i nā mea a pau ma kou manaʻo.

He aha ka ʻokoʻa ma waena o ka Van der Woude Syndrome a me ka Popliteal Pterygium Syndrome?

He mea paʻakikī iki kēia, akā maikaʻi ke ʻike pōkole.

ʻO ka Popliteal Pterygium Syndrome (PPS) he maʻi autosomal dominant nō hoʻi. E like me ka Vander Wood Syndrome, ua hoʻokumu ʻia e kahi mutation i loko o ka gene like, ʻo IRF6. Eia nō naʻe, ʻoi aku ka maʻamau o ka PPS ma mua o ka Vander Wood Syndrome.Kākaʻikahi (hoʻokahi wale nō i loko o 300,000 poʻe o ka honua e pili ana i kēia maʻi).

Ma waho aʻe o nā hōʻailona o ka maʻi Vander Wood, e like me ka lehelehe māwae, ka palate māwae, a me nā lua lehelehe, hiki i kahi keiki me ka 'PPS' ke loaʻa kekahi mau hōʻailona ʻē aʻe:

• Aia paha he ʻiʻo keu i hoʻopili ʻia ma waena o nā lihilihi o luna a me lalo, a i ʻole ma waena o nā ʻā.
• Aia paha he mau ʻāpana ʻili ma luna o nā manamana wāwae nui.
• ʻAʻole e ulu pono ka labia majora, ka ʻaoʻao waho o ka vagina i nā kaikamahine.
• ʻAʻole i iho mai nā hua o nā keikikāne.
• Aia paha he mau ʻupena ʻili ma hope o nā kuli a ma waena paha o nā manamana lima a me nā manamana wāwae (i kapa ʻia hoʻi ʻo syndactyly).

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He mea maʻamau ke kaumaha, hopohopo, a huhū hoʻi ke ʻike ʻoe he hiʻohiʻona helehelena ʻē ko kāu keiki, e like me ka `lip pits`, `cleft lip`, a i ʻole `cleft palate`. Ma ke ʻano he makua, ʻaʻohe hewa o ka manaʻo pēlā.

Akā ʻo ka mea nui, hiki ke mālama pono ʻia kekahi o kēia mau kūlana. Hiki i ke ʻoki kino ke hoʻoponopono i kekahi o kēia mau loli kino, e kōkua ana i kāu keiki e ulu maikaʻi, e pāʻani me nā poʻe ʻē aʻe, e aʻo, a e ola i kahi ola maʻamau.

Inā pilikia kāu keiki i ka ʻai ʻana a i ʻole ka ʻōlelo ʻana, hiki iā ʻoe ke ʻimi i ke kōkua loea. Inā he mau pilikia niho, he mea nui e ʻimi i ke aʻo niho mau.

Inā loaʻa i kāu keiki ka maʻi Vander Wood, he mea nui e ʻike i kahi kākāʻōlelo genetic e kamaʻilio e pili ana i ke ʻano o ka hoʻololi ʻana o ka genetic i hoʻokumu ai i ia mea e hiki ai ke hoʻopilikia i nā hanauna e hiki mai ana a me kāu mau koho. ʻAʻole ʻoe hoʻokahi, a he nui nā kauka, nā mea hoʻōla, a me nā kākāʻōlelo e hiki ke kōkua iā ʻoe ma kēia huakaʻi.

ʻO ka Van der Woude Syndrome, nā lua lehelehe, ka lehelehe māwae, ka palale māwae, ka gene IRF6, nā hoʻololi genetic, nā kīnā hānau, ke ʻoki kino, ke olakino o nā keiki, ke aʻo ʻana i nā genetics